Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024675.4

p.A245P

c.733G>C

Surrounding Variants

4 papers

NM_024675.4

p.A245S

c.733G>T

4 papers

NM_024675.4

p.A245T

c.733G>A

1 paper

NM_024675.4

p.T243_R244delFs

c.729_732del4

1 paper

NM_024675.4

p.A245fs

c.733_734fs

2 papers

NM_024675.4

p.R244S

c.732G>T

2 papers

NM_024675.4

p.R244S

c.732G>C

1 paper

NM_024675.4

p.R244R

c.732G>A

1 paper

NM_024675.4

p.R239_T243del5

c.715_728del15

10 papers

NM_024675.4

p.A245V

c.734C>T

1 paper

NM_024675.4

p.A245G

c.734C>G

1 paper

NM_024675.4

p.R244_A245delFs

c.730_733del4

1 paper

NM_024675.4

p.A245A

c.735G>T